Santra, Saikat

Guidelines for the diagnosis and management of cystathionine beta‐synthase deficiency

Morris, A. A. M., Kožich, V., Santra, S., Andria, G., Ben‐Omran, T. I. M., Chakrapani, A. B., Crushell, E., Henderson, M. J., Hochuli, M., Huemer, M., et al. (2017) · Journal of Inherited Metabolic Disease

Folate and B Vitamins ResearchMetabolism and Genetic Disorders

Cited by 340

Exome Sequencing and the Management of Neurometabolic Disorders

Tarailo-Graovac, M., Shyr, C., Ross, C. J., Horvath, G. A., Salvarinova, R., Ye, X. C., Zhang, L.-H., Bhavsar, A. P., Lee, J. J. Y., Drögemöller, B. I., et al. (2016) · New England Journal of Medicine

Metabolism and Genetic DisordersGenomics and Rare Diseases

Cited by 281

Experience of nitisinone for the pharmacological treatment of hereditary tyrosinaemia type 1

Santra, S., & Baumann, U. (2008) · Expert Opinion on Pharmacotherapy

Metabolism and Genetic DisordersAmino Acid Enzymes and Metabolism

Cited by 68

Renal tubular function in children with tyrosinaemia type I treated with nitisinone

Santra, S., Preece, M. A., Hulton, S. ‐., & McKiernan, P. J. (2008) · Journal of Inherited Metabolic Disease

Metabolism and Genetic DisordersAmino Acid Enzymes and Metabolism

Cited by 43

De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures

Ito, Y., Carss, K. J., Duarte, S. T., Hartley, T., Keren, B., Kurian, M. A., Marey, I., Charles, P., Mendonça, C., Nava, C., et al. (2018) · The American Journal of Human Genetics

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 41